Canonical Allele Identifier: CA487829178

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273639-G-A
• MyVariant Identifiers: chr14:g.91739983G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273639G>A , CM000676.2:g.91273639G>A	GRCh38
NC_000014.8:g.91739983G>A , CM000676.1:g.91739983G>A	GRCh37
NC_000014.7:g.90809736G>A	NCBI36
NG_033118.1:g.149206C>T
NG_033118.2:g.149206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5073C>T MANE Select	ENSP00000374507.6:p.Cys1691=
ENST00000331194.8:c.645C>T	ENSP00000330332.8:p.Cys215=
ENST00000334448.5:n.885C>T
ENST00000389857.10:c.5073C>T	ENSP00000374507.6:p.Cys1691=
ENST00000556726.5:c.1301C>T
NM_001080414.3:c.5073C>T	NP_001073883.2:p.Cys1691=
XM_011536796.1:c.4965C>T	XP_011535098.1:p.Cys1655=
XR_429316.2:n.5348C>T
XM_011536796.2:c.4965C>T	XP_011535098.1:p.Cys1655=
XM_017021336.1:c.2154C>T	XP_016876825.1:p.Cys718=
XR_429316.4:n.5346C>T
NM_001080414.4:c.5073C>T MANE Select	NP_001073883.2:p.Cys1691=